Isolated Adrenocorticotropic Hormone Deficiency:Report of Three Cases and Literature Review

Yuyang XIAO, Jiyan YANG, Binyu SUN, Fang WANG

Acta Academiae Medicinae Sinicae ›› 2025, Vol. 47 ›› Issue (6) : 1045-1050.

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Acta Academiae Medicinae Sinicae

Abbreviation (ISO4): Acta Academiae Medicinae Sinicae      Editor in chief: Xuetao CAO

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Acta Academiae Medicinae Sinicae ›› 2025, Vol. 47 ›› Issue (6) : 1045-1050. DOI: 10.3881/j.issn.1000-503X.16386
Case Reports

Isolated Adrenocorticotropic Hormone Deficiency:Report of Three Cases and Literature Review

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Abstract

Isolated adrenocorticotropic hormone(ACTH)deficiency(IAD)is a rare disease first reported by Steinberg from Japan in 1954,and there have been few clinical reports about IAD to date.IAD is characterized by secondary adrenal cortical insufficiency,low or absent cortisol production,normal or transiently reversible increases in secretion of pituitary hormones other than ACTH,no structural pituitary defects,and exclusion of ACTH deficiency caused by exogenous glucocorticoid use and postoperative pituitary adenoma.This paper retrospectively analyzes the clinical data of three adult patients with IAD and summarizes their clinical characteristics,aiming to improve clinical awareness of this rare disease.

Key words

isolated adrenocorticotropic hormone deficiency / adrenal cortical insufficiency / autoimmunity

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Yuyang XIAO , Jiyan YANG , Binyu SUN , et al. Isolated Adrenocorticotropic Hormone Deficiency:Report of Three Cases and Literature Review[J]. Acta Academiae Medicinae Sinicae. 2025, 47(6): 1045-1050 https://doi.org/10.3881/j.issn.1000-503X.16386

References

[1]
Orme SM, Belchetz PE. Isolated ACTH deficiency[J]. Clin Endocrinol(Oxf), 1991, 35(3):213-217.DOI:10.1111/j.1365-2265.1991.tb03524.x.
[2]
郭清华, 陈康, 陆菊明, 等. 成人特发性孤立性ACTH缺乏症三例临床分析并文献复习[J]. 中华内分泌代谢杂志, 2014, 30(1):38-42.DOI:10.3760/cma.j.issn.1000-6699.2014.01.010.
[3]
吴海艳, 王旭, 许炎煌, 等. 以低钠血症为首发的成人孤立性ACTH缺乏症3例报道并临床分析[J]. 四川医学, 2021, 42(10):1064-1068.DOI:10.16252/j.cnki.issn1004-0501-2021.10.020.
[4]
Hannon MJ, O’Halloran DJ. Isolated acquired ACTH deficiency and primary hypothyroidism:a short series and review[J]. Pituitary, 2011, 14(4):358-361.DOI:10.1007/s11102-008-0164-9.
[5]
BinnetoĞlu E,Aşık M,Şen H,et al. Isolated adrenocorticotropic hormone deficiency(ACTH)associated with Hashimoto’s disease[J]. Turk J Endocrinol Metab, 2014,18(1):26-27.DOI:10.4274/tjem.2341.
[6]
Kacem FH, Charfi N, Mnif MF, et al. Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman[J]. Indian J Endocrinol Metab, 2013, 17(Suppl 1):S107-S110.DOI:10.4103/2230-8210.119521.
[7]
MÜssig K, Friess E, MÖrike K, et al. Isolated ACTH deficiency due to long-term treatment with flunitrazepam[J]. Exp Clin Endocrinol Diabetes, 2006, 114(4):206-208.DOI:10.1055/s-2006-933096.
[8]
Zhang S, Cui Y, Ma X, et al. Single-cell transcriptomics identifies divergent developmental lineage trajectories during human pituitary development[J]. Nat Commun, 2020, 11(1):5275.DOI:10.1038/s41467-020-19012-4.
[9]
Yamasaki Y, Horie I, Shigeno R, et al. New onset of isolated adrenocorticotropin deficiency associated with encephalopathy following coronavirus disease 2019 in a healthy elderly man[J]. Endocr J, 2024, 71(3):305-312.DOI:10.1507/endocrj.EJ23-0550.
[10]
张杰, 于会文. 成人孤立性ACTH缺乏症1例及文献复习[J]. 医学信息, 2019, 32(16):191-192.DOI:10.3969/j.issn.1006-1959.2019.16.066.
[11]
Li B, Chan HL, Chen P. Immune checkpoint inhibitors:basics and challenges[J]. Curr Med Chem, 2019, 26(17):3009-3025.DOI:10.2174/0929867324666170804143706.
[12]
Byun DJ, Wolchok JD, Rosenberg LM, et al. Cancer immunotherapy-immune checkpoint blockade and associated endocrinopathies[J]. Nat Rev Endocrinol, 2017, 13(4):195-207.DOI:10.1038/nrendo.2016.205.
[13]
Cui K, Wang Z, Zhang Q, et al. Immune checkpoint inhibitors and adrenal insufficiency:a large-sample case series study[J]. Ann Transl Med, 2022, 10(5):251.DOI:10.21037/atm-21-7006.
[14]
Inaba H, Ariyasu H, Iwakura H, et al. Comparative analysis of human leucocyte antigen between idiopathic and anti-PD-1 antibody induced isolated adrenocorticotropic hormone deficiency:a pilot study[J]. Clin Endocrinol(Oxf), 2019, 91(6):786-792.DOI:10.1111/cen.14082.
[15]
Onyema MC, Drakou EE, Dimitriadis GK. Endocrine abnormality in paraneoplastic syndrome[J]. Best Pract Res Clin Endocrinol Metab, 2022, 36(3):101621.DOI:10.1016/j.beem.2022.101621.
[16]
Bando H, Iguchi G, Kanie K, et al. Isolated adrenocorticotropic hormone deficiency as a form of paraneoplastic syndrome[J]. Pituitary, 2018, 21(5):480-489.DOI:10.1007/s11102-018-0901-7.
[17]
Urai S, Watanabe M, Bando H, et al. Paraneoplastic isolated adrenocorticotropic hormone deficiency revealed after immune checkpoint inhibitors therapy:new insights into anti-corticotroph antibody[J]. Front Immunol, 2023, 14:1284301.DOI:10.3389/fimmu.2023.1284301.
[18]
Iglesias P, Peiro I, Biagetti B, et al. Immunotherapy-induced isolated ACTH deficiency in cancer therapy[J]. Endocr Relat Cancer, 2021, 28(12):783-792.DOI:10.1530/erc-21-0228.
[19]
Langlois F, Varlamov EV, Fleseriu M. Hypophysitis,the growing spectrum of a rare pituitary disease[J]. J Clin Endocrinol Metab, 2022, 107(1):10-28.DOI:10.1210/clinem/dgab672.
[20]
Prodam F, Caputo M, Mele C, et al. Insights into non-classic and emerging causes of hypopituitarism[J]. Nat Rev Endocrinol, 2021, 17(2):114-129.DOI:10.1038/s41574-020-00437-2.
[21]
Takahashi Y. Paraneoplastic autoimmune hypophysitis:a novel form of paraneoplastic endocrine syndrome[J]. Endocr J, 2023, 70(6):559-565.DOI:10.1507/endocrj.EJ23-0050.
[22]
Yamamoto M, Bando H. A new insight into GH regulation and its disturbance from nutrition and autoimmune perspectives[J]. Endocr J, 2023, 70(9):867-874.DOI:10.1507/endocrj.EJ23-0264.
[23]
Urai S, Iguchi G, Kanie K, et al. Clinical features of anti-pituitary-specific transcription factor-1(PIT-1)hypophysitis:a new aspect of paraneoplastic autoimmune condition[J]. Eur J Endocrinol, 2024, 190(1):K1-K7.DOI:10.1093/ejendo/lvad179.
[24]
Kanie K, Bando H, Iguchi G, et al. Pathogenesis of anti-PIT-1 antibody syndrome:PIT-1 presentation by HLA class I on anterior pituitary cells[J]. J Endocr Soc, 2019, 3(11):1969-1978.DOI:10.1210/js.2019-00243.
[25]
Bando H, Iguchi G, Okimura Y, et al. A novel thymoma-associated autoimmune disease:anti-PIT-1 antibody syndrome[J]. Sci Rep, 2017, 7:43060. DOI:10.1038/srep43060.
[26]
Urai S, Tomofuji S, Bando H, et al. The early-stage clinical course of anti-pituitary-specific transcription factor-1 hypophysitis diagnosed post-immune checkpoint inhibitor treatment:a case with review of literature[J]. J Neuroendocrinol, 2024, 36(6):e13395.DOI:10.1111/jne.13395.
[27]
孙婵, 郑丽丽. 孤立性 ACTH 缺乏症发病机制概述[J]. 河南医学研究, 2015(3):74-76.DOI:10.3969/j.issn.1004-437X.2015.03.033.
[28]
Vallette-Kasic S, Brue T, Pulichino AM, et al. Congenital isolated adrenocorticotropin deficiency:an underestimated cause of neonatal death,explained by TPIT gene mutations[J]. J Clin Endocrinol Metab, 2005, 90(3):1323-1331.DOI:10.1210/jc.2004-1300.
[29]
Peng C, Sun G, Tang Z, et al. Congenital isolated ACTH deficiency caused by TBX19 gene mutation:a family report[J]. Front Pediatr, 2019, 7:546.DOI:10.3389/fped.2019.00546.
[30]
Weijing K, Liping Z, Tiantian Z, et al. A case of congenital isolated adrenocorticotropic hormone deficiency caused by two novel mutations in the TBX19 gene[J]. Front Endocrinol(Lausanne), 2019, 10:251.DOI:10.3389/fendo.2019.00251.
[31]
Vieira IH, Mourinho Bala N, Ramos F, et al. A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation,beyond the neonatal period[J]. Endocrinol Diabetes Metab Case Rep, 2022, 2022:22-0277.DOI:10.1530/edm-22-0277.
[32]
Patti G, Guzzeti C, Di Iorgi N, et al. Central adrenal insufficiency in children and adolescents[J]. Best Pract Res Clin Endocrinol Metab, 2018, 32(4):425-444.DOI:10.1016/j.beem.2018.03.012.
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